ArticleAmerican journal of human genetics2017
A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 43 citations in OpenAlex.
- Beyond transfusions and transplants: genomic innovations rewriting the narrative of thalassemia.Annals of hematology · 2025Review
- A common TBP-binding site mutation elevates fetal hemoglobin levels by competitive globin switching change in β-thalassemia.Blood advances · 2025Article
- A one-base therapeutic insertion in the HBG2 distal promoter reactivates γ-globin expression.Experimental hematology & oncology · 2025Article
- Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Saracatinib prompts hemin-induced K562 erythroid differentiation but suppresses erythropoiesis of hematopoietic stem cells.Human cell · 2024Article
- Pharmacogenomics of Drugs Used in β-Thalassemia and Sickle-Cell Disease: From Basic Research to Clinical Applications.International journal of molecular sciences · 2024Review
- Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project.Molecular biology reports · 2024Article
- Two novel deletion mutations in β-globin gene cause β-thalassemia trait in two Chinese families.Human genomics · 2023Article
- Article
- Molecular basis of non-deletional HPFH in Thailand and identification of two novel mutations at the binding sites of CCAAT and GATA-1 transcription factors.Scientific reports · 2023Article
- The rs368698783 (G>A) Polymorphism Affecting LYAR Binding to the Aγ-Globin Gene Is Associated with High Fetal Hemoglobin (HbF) in β-Thalassemia Erythroid Precursor Cells Treated with HbF InducersInternational journal of molecular sciences · 2023Article
- Molecular basis of a high Hb APeerJ · 2023Article
- Induction of Fetal Hemoglobin by Introducing Natural Hereditary Persistence of Fetal Hemoglobin Mutations in the γ-Globin Gene Promoters for Genome Editing Therapies for β-Thalassemia.Frontiers in genetics · 2022Article
- Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine.Scientific reports · 2021Article
- Transcriptional silencing of fetal hemoglobin expression by NonO.Nucleic acids research · 2021Article
- Ethics and regulatory considerations for the clinical translation of somatic cell human epigenetic editing.Stem cell reports · 2021Article
- Hyperhaemolysis in a pregnant woman with a homozygous βMolecular genetics & genomic medicine · 2021Article
- Epigenetic inactivation of ERF reactivates γ-globin expression in β-thalassemia.American journal of human genetics · 2021Article
- DNA methylation patterns of β-globin cluster in β-thalassemia patients.Clinical epigenetics · 2020Article
- Large-Scale Drug Screen Identifies FDA-Approved Drugs for Repurposing in Sickle-Cell Disease.Journal of clinical medicine · 2020Article
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Authors and funding
23 authors at 12 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A delayed fetal-to-adult hemoglobin (Hb) switch ameliorates the severity of β-thalassemia and sickle cell disease. The molecular mechanism underlying the epigenetic dysregulation of the switch is unclear. To explore the potential cis-variants responsible for the Hb switching, we systematically analyzed an 80-kb region spanning the β-globin cluster using capture-based next-generation sequencing of 1142 Chinese β-thalassemia persons and identified 31 fetal hemoglobin (HbF)-associated haplotypes of the selected 28 tag regulatory single-nucleotide polymorphisms (rSNPs) in seven linkage disequilibrium (LD) blocks. A Ly1 antibody reactive (LYAR)-binding motif disruptive rSNP rs368698783 (G/A) from LD block 5 in the proximal promoter of hemoglobin subunit gamma 1 (HBG1) was found to be a significant predictor for β-thalassemia clinical severity by epigenetic-mediated variant-dependent HbF elevation. We found this rSNP accounted for 41.6% of β-hemoglobinopathy individuals as an ameliorating factor in a total of 2,738 individuals from southern China and Thailand. We uncovered that the minor allele of the rSNP triggers the attenuation of LYAR and two repressive epigenetic regulators DNA methyltransferase 3 alpha (DNMT3A) and protein arginine methyltransferase 5 (PRMT5) from the HBG promoters, mediating allele-biased γ-globin elevation by facilitating demethylation of HBG core promoter CpG sites in erythroid progenitor cells from β-thalassemia persons. The present study demonstrates that this common rSNP in the proximal
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